L. Abbattista, P. Baldassarre, Roberta Grazi, V. Calcaterra, P. Carlucci, V. Fabiano, P. Erba, E. Verduci, G. Zuccotti
{"title":"Pallister-Killian综合征的原发性闭经:临床表现还是并发症?","authors":"L. Abbattista, P. Baldassarre, Roberta Grazi, V. Calcaterra, P. Carlucci, V. Fabiano, P. Erba, E. Verduci, G. Zuccotti","doi":"10.12974/2311-8687.2021.09.4","DOIUrl":null,"url":null,"abstract":"Introduction: Pallister-Killian syndrome (PKS) is a rare genetic disorder caused by a mosaic tetrasomy of the short arm of chromosome 12 (12p). PKS has a wide spectrum of clinical manifestations which vary in different age groups. However, in the up to date literature there are no reported cases of puberty disorder associated with this syndrome. We describe a caucasian 17- year-old girl with PKS with primary amenorrhea as failure of appropriate pubertal progression.\nPatient: at first general examination, the patient shows a phenotype compatible with the PKS of adulthood was noted. Auxological data revealed undernutrition (BMI ?3 z-score), with pubertal Tanner stage 3. A retarded bone age was detected. At pelvic ultrasound prepubertal uterus and microfollicular ovaries were noted. The laboratory data was compatible with hypogonadotropic hypogonadism.\nConclusion: this is the first case of primary amenorrhea in PKS. It would be interesting to reassess this novel finding in other patients affected by the same condition in order to establish whether hypogonadotropic hypogonadism is a typical clinical manifestation of the syndrome or it’s secondary to nutritional and stressful status. ","PeriodicalId":91713,"journal":{"name":"International journal of pediatrics and child health","volume":" ","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2021-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Primary Amenorrhea in Pallister Killian Syndrome: Clinical Manifestation or Complication?\",\"authors\":\"L. Abbattista, P. Baldassarre, Roberta Grazi, V. Calcaterra, P. Carlucci, V. Fabiano, P. Erba, E. Verduci, G. Zuccotti\",\"doi\":\"10.12974/2311-8687.2021.09.4\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Introduction: Pallister-Killian syndrome (PKS) is a rare genetic disorder caused by a mosaic tetrasomy of the short arm of chromosome 12 (12p). PKS has a wide spectrum of clinical manifestations which vary in different age groups. However, in the up to date literature there are no reported cases of puberty disorder associated with this syndrome. We describe a caucasian 17- year-old girl with PKS with primary amenorrhea as failure of appropriate pubertal progression.\\nPatient: at first general examination, the patient shows a phenotype compatible with the PKS of adulthood was noted. Auxological data revealed undernutrition (BMI ?3 z-score), with pubertal Tanner stage 3. A retarded bone age was detected. At pelvic ultrasound prepubertal uterus and microfollicular ovaries were noted. The laboratory data was compatible with hypogonadotropic hypogonadism.\\nConclusion: this is the first case of primary amenorrhea in PKS. It would be interesting to reassess this novel finding in other patients affected by the same condition in order to establish whether hypogonadotropic hypogonadism is a typical clinical manifestation of the syndrome or it’s secondary to nutritional and stressful status. \",\"PeriodicalId\":91713,\"journal\":{\"name\":\"International journal of pediatrics and child health\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2021-06-02\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"International journal of pediatrics and child health\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.12974/2311-8687.2021.09.4\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"International journal of pediatrics and child health","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.12974/2311-8687.2021.09.4","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Primary Amenorrhea in Pallister Killian Syndrome: Clinical Manifestation or Complication?
Introduction: Pallister-Killian syndrome (PKS) is a rare genetic disorder caused by a mosaic tetrasomy of the short arm of chromosome 12 (12p). PKS has a wide spectrum of clinical manifestations which vary in different age groups. However, in the up to date literature there are no reported cases of puberty disorder associated with this syndrome. We describe a caucasian 17- year-old girl with PKS with primary amenorrhea as failure of appropriate pubertal progression.
Patient: at first general examination, the patient shows a phenotype compatible with the PKS of adulthood was noted. Auxological data revealed undernutrition (BMI ?3 z-score), with pubertal Tanner stage 3. A retarded bone age was detected. At pelvic ultrasound prepubertal uterus and microfollicular ovaries were noted. The laboratory data was compatible with hypogonadotropic hypogonadism.
Conclusion: this is the first case of primary amenorrhea in PKS. It would be interesting to reassess this novel finding in other patients affected by the same condition in order to establish whether hypogonadotropic hypogonadism is a typical clinical manifestation of the syndrome or it’s secondary to nutritional and stressful status.